Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48929394G>A , CM000677.2:g.48929394G>A | GRCh38 |
| NC_000015.9:g.49221591G>A , CM000677.1:g.49221591G>A | GRCh37 |
| NC_000015.8:g.47008883G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_203349.4:c.586-4445C>T MANE Select | NP_976224.3:n.586-4445C>T |
| ENST00000332408.9:c.586-4445C>T MANE Select | ENSP00000329668.4:n.586-4445C>T |
| NM_203349.3:c.586-4445C>T | NP_976224.3:n.586-4445C>T |
| ENST00000332408.8:c.586-4445C>T | ENSP00000329668.4:n.586-4445C>T |
| XM_005254375.2:c.37-4445C>T | XP_005254432.1:n.37-4445C>T |
| XM_005254375.3:c.37-4445C>T | XP_005254432.1:n.37-4445C>T |
| XM_011521552.1:c.-3-4445C>T | XP_011519854.1:n.-3-4445C>T |